ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2853+7C>T

gnomAD frequency: 0.00001  dbSNP: rs760934874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001436026 SCV001638860 likely benign Familial hyperkalemic periodic paralysis 2023-07-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488243 SCV002798651 likely benign Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2022-04-17 criteria provided, single submitter clinical testing

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